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BRAIN Path 2
Types of Strokes
Warning Signs
Transient Ischemic Attack (TIA)
Reversible Ischemic Neurologic Deficit (RIND)
Types
Ischemic
Thrombotic
Atherosclerosis
Embolic
Atrial Fibrillation
Hemorrhagic
Severe Hypertension
3 mins
Neurofibromatosis Type 2
Pathophysiology
Autosomal-Dominant
Chromosome 22
Signs and Symptoms
Vestibular Schwannoma
Meningioma
Ependymoma
Cafe Au Lait Spots
Cataracts
2 mins
Neurofibromatosis Type 1
Pathophysiology
Autosomal Dominant
Chromosome 17
Signs and Symptoms
Neurofibromas
Optic Glioma
Lisch Nodules
Hamartomas
Cafe Au Lait Spots
Scoliosis
Pheochromocytoma
4 mins
Multiple Sclerosis Features and Mechanisms
Features
More Common in Women
Presents in 20's and 30's
Northern Europeans
Mechanism
Unknown mechanism, genetic factor
HLA-DRB1
Autoimmune Demyelination of CNS
White Matter of Brain and Spinal Cord
T Cell Mediated Inflammation
2 mins
Multiple Sclerosis Symptoms and Diagnosis
Symptoms
Optic Neuritis
Internuclear Ophthalmoplegia
Scanning Speech
Urinary and Fecal Incontinence
Motor Issues (Intention Tremor, Paresis)
Numbness and Pain
Depression
Relapsing Symptoms
Diagnosis
Gold Standard = Plaques on MRI
Increased CSF Immunoglobulins (IgG)
Oligoclonal Bands
4 mins
Tay-Sachs Disease
Pathophysiology
Autosomal Recessive
Hexosaminidase A Deficiency
Increased GM2 Ganglioside
More Common in Ashkenazi Jewish Population
Signs and Symptoms
Cherry Red Spot on Macula
Neurodegeneration
Developmental Delay
Diagnosis
Onion Skin Lysosomes
1 min
Niemann-Pick Disease
Pathophysiology
Autosomal Recessive
Sphingomyelinase Deficiency
More Common in Ashkenazi Jewish Population
Signs and Symptoms
Cherry Red Spot on Macula
Hepatosplenomegaly
Neurodegeneration
Diagnosis
Foam Cells
1 min
Krabbe Disease
Pathophysiology
Autosomal Recessive
Galactocerebrosidase Deficiency
Increased Psychosine
Signs and Symptoms
Developmental Delay
Peripheral Neuropathy
Optic Atrophy
Diagnosis
Globoid Cells
1 min
Gauchers Disease
Pathophysiology
Autosomal Recessive
Beta Glucocerebrosidase Deficiency
Diagnosis
Lipid-laden Macrophages
Crumpled Tissue Paper
Signs and Symptoms
Osteoporosis
Bone Crises
Aseptic Necrosis of Femur
Erlenmeyer Flask Deformity
Hepatosplenomegaly
Pancytopenia
2 mins
Metachromatic Leukodystrophy
Pathophysiology
Autosomal Recessive
Arylsulfatase A Deficiency
Increased Cerebroside Sulfate
Signs and Symptoms
Demyelination
Ataxia
Dementia
1 min
Hurler Syndrome
Pathophysiology
Autosomal Recessive
Mucopolysaccharidoses
Alpha-L-Iduronidase Deficiency
Increased Heparan Sulfate
Increased Dermatan Sulfate
Signs and Symptoms
Hepatosplenomegaly
Developmental Delay
Gargoylism
Corneal Clouding
Airway Obstruction
2 mins
Hunter Syndrome
Pathophysiology
X-linked Recessive
Mucopolysaccharidoses
Iduronate Sulfatase Deficiency
Increased Dermatan Sulfate
Increased Heparan Sulfate
Signs and Symptoms
No Corneal Clouding
Aggressive Behavior
1 min
Parkinson's Disease Assessment
Assessment
Decreased Dopamine
Older Adult
Cogwheel Rigidity
Bradykinesia
Shuffling Gait
Resting Tremor
Pill-Rolling
Mask-Like Face
Cognitive Decline
2 mins
Amyotrophic Lateral Sclerosis (ALS)
Assessment
Progressive Muscle Weakness
Systemic Muscle Wasting
Fasciculations
Spasticity
Fatigue
Considerations
Riluzole (Rilutek)
Stretching
Little to No Cognitive Decline
Respiratory Support
Palliative Care
2 mins
Tuberous Sclerosis
Characteristics
Autosomal Dominant
Signs and Symptoms
Hamartomas in CNS and Skin
Phakoma
Subependymal Giant Cell Astrocytoma
Seizures
Intellectual Disability (Mental Retardation)
Adenoma Sebaceum
Shagreen Patch
Ash-leaf Spots
Renal Angiomyolipoma
Cardiac Rhabdomyoma
2 mins
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